Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.

An abnormality in the c-sis protooncogene was identified in leukocyte DNA from members of a family predisposed to the development of meningioma, and was found to be associated with the development of the tumor in those individuals. Molecular analysis of this abnormality demonstrated a deletion within the fifth intron of the c-sis gene. The normal c-sis gene has an Alu sequence in this region which includes two perfect 130 nucleotide repeated sequences separated by 5 bp. The deleted c-sis allele is missing precisely one copy of the 130 bp repeat and the intervening 5 bp. An identical deletion was also found in DNA from 1 of 13 sporadic meningiomas.     

Trends in US Autism Research Funding

This study shows that the number of autism research grants funded in the US from 1997 to 2006 significantly increased 15% per year. Although the majority of projects were concentrated in basic science (65%) compared to clinical (15%) and translational research (20%), there is a significant decrease in the proportion of basic research grants per year and a significant increase in the proportion of translational projects per year. The number of translational projects funded by the National Alliance for Autism Research and Cure Autism Now increased significantly, whereas the number of clinical projects significantly increased for the National Institutes of Health. In conclusion, this study demonstrates the shifting landscape of autism research from basic science to clinical and translational research.     

A Histochemical Approach to the Diagnosis of Visceral Pleural Infiltration by Non-small Cell Lung Cancer

Introduction: Although invasion of the visceral pleura (VPI) by non-small cell lung cancer (NSCLC) is a TNM-relevant diagnostic criterion and is known to affect the patients′ prognoses, until recently there were no standardized or internationally accepted guidelines. This resulted in a diagnostic ambiguity leading to different tumor staging systems and to hardly comparable patient collectives in research studies world wide. The major problem in this issue is to exactly define what constitutes for the diagnosis of VPI with respect to anatomical landmarks. Methods: In order to address this problem we investigated the pleural infiltration depth of 173 NSCLC specimens without lymph node metastases and proven tumor-related death using elastic stains and a scoring system referring to prominent pleural elastic layers, the lamina elastica externa and interna, as anatomical landmarks. Results: Performing comparative Kaplan-Meier survival analyses for each patient collective we could not find any significant difference in the patients′ survival. This indicates that a differential evaluation of the tumor infiltration depth according to the elastic layers is not practicable. Conclusions: Our findings support the consequent application of the recently proposed, pragmatic approach of the international staging committee for lung cancer (IASLC) to define an internationally accepted and standardized staging system for VPI.     

Maternal use of antibiotics and cancer in the offspring: results of a case–control study in Germany

Objective  

As previous results were inconsistent, we assessed the association between maternal use of antibiotics during pregnancy or 3 months before conception and childhood cancer in the offspring in a large case–control study in Germany.     

Condensed images for evaluating gastric motility patterns

A condensed imaging technique was applied to gastric emptying studies to investigate (a) whether different types of motility disorders may be distinguished by characteristic image patterns and (b) whether the findings obtained provide additional information compared to standard quantitative measurements. Condensed images and quantitative data of gastric emptying were evaluated in 75 consecutive patients with normal function (n = 16) and various disorders (n = 59) such as peptic ulcer, postvagotomy, pyloric obstruction, dumping syndrome, gastroparesis etc. Condensed images were generated from a gastric region of interest. They display the distribution and behaviour of a radioactive test meal in a space-time matrix, whose horizontal and vertical dimensions are temporal and spatial, respectively. As shown in a series of representative examples condensed images disclose a variety of well-defined image patterns reflecting different pathophysiological mechanisms. This qualitative characterization of gastric emptying patterns provided in 34 of the 75 patients (45%) important new information compared to quantitative data. The application of condensed imaging techniques to gastric emptying studies (complementary to quantitative measurements) may, therefore, enhance the diagnostic value of scintigraphic techniques.     

Anorektales malignes Melanom

Zusammenfassung Hintergrund: Das primäre anorektale Melanom ist selten: Etwa 1% aller malignen Neoplasmen dieser Region sind maligne Melanome. Die Erkrankung hat unabhängig vom gewählten chirurgischen Verfahren eine schlechte Prognose. Diese Tumorentität weist diagnostische und therapeutische Probleme auf, sehr häufig bestehen bereits zum Zeitpunkt der Diagnosestellung Metastasen. Fallbericht: Es wird der Fall eines 60-jährigen Mannes aus der Türkeit mit einem anorektalen malignen Melanom geschildert. Zunächst wurde eine transanale lokale Exzision vorgenommen. Da diese nicht im Gesunden erfolgte, schloss sich eine abdominoperineale Rektumexstirpation an. Befallene Lymphknoten bzw. Fernmetastasen waren nicht nachweisbar. Abstract Background: Primary malignant anorectal melanoma is a rare disease that accounts for about 1% of anorectal malignancies. Its virulent malignancy is associated with a poor prognosis, irrespective of surgical treatment, and with difficult diagnostic and therapeutic problems. Metastatic disease is commonly established at presentation, the operative management of these patients is controversial. Case Report: A case of primary anorectal malignant melanoma in a 60-year-old male from Turkey is described. First a local excision was performed, in a second step an abdominoperineal resection followed because of tumor invasion of the lateral verge of the specimen. The patient had no lymph node or distant metastases.     

Porphobilinogen deaminase and the synthesis of porphyrin isomers in the Dubin-Johnson syndrome

Porphyrin synthesis was studied in a family of 9.3 of whom had the Dubin-Johnson syndrome (DJS). Subjects with DJS had modest increases in urinary porphyrin concentration with a marked increase in the series I isomer of coproporphyrin (tetracarboxylic) as well as in the octa-, hepta-, hexa- and penta-carboxyl porphyrins. Activity of erythrocyte porphobilinogen deaminase (PBG-D) was also increased. Non-expressing carriers in the family had normal levels of urinary porphyrins but modest increases in both series I isomer accumulation and PBG-D activity. These results may provide a rationale for the altered synthesis of porphyrin in DJS.